ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) (rs36039758)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036515 SCV000060170 benign not specified 2019-03-05 criteria provided, single submitter clinical testing The p.Asn324Tyr variant in SLC26A4 is classified as benign because it has been identified in 3.4% (847/24956) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org/). ACMG/AMP criteria applied: BA1.
Counsyl RCV000169079 SCV000220250 likely benign Pendred syndrome 2014-04-26 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036515 SCV000343807 benign not specified 2016-08-03 criteria provided, single submitter clinical testing
Invitae RCV000906722 SCV001051380 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000169079 SCV001326842 benign Pendred syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001004632 SCV001326843 benign Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV001004632 SCV000994877 other Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided literature only Benign effect in vitro experiment
Natera, Inc. RCV000169079 SCV001459864 benign Pendred syndrome 2020-01-10 no assertion criteria provided clinical testing

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